Mutagenetix > Incidental Mutation

Incidental Mutation 'R5422:Btaf1'

426677

Institutional Source

Beutler Lab

Gene Symbol

Btaf1

Ensembl Gene

ENSMUSG00000040565

Gene Name

B-TFIID TATA-box binding protein associated factor 1

Synonyms

E430027O22Rik

MMRRC Submission

042846-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5422 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

36903479-36990152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36928507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 109 (R109S)

Ref Sequence

ENSEMBL: ENSMUSP00000097093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099494]

AlphaFold

E9QAE3

Predicted Effect

probably benign
Transcript: ENSMUST00000099494
AA Change: R109S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097093
Gene: ENSMUSG00000040565
AA Change: R109S

Domain	Start	End	E-Value	Type
low complexity region	87	98	N/A	INTRINSIC
low complexity region	143	152	N/A	INTRINSIC
PDB:3OC3\|B	276	414	3e-6	PDB
low complexity region	438	454	N/A	INTRINSIC
Pfam:DUF3535	585	1051	1.1e-133	PFAM
low complexity region	1099	1110	N/A	INTRINSIC
low complexity region	1177	1192	N/A	INTRINSIC
DEXDc	1261	1469	3.02e-30	SMART
low complexity region	1630	1641	N/A	INTRINSIC
HELICc	1657	1743	2.22e-19	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]
PHENOTYPE: Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development. [provided by MGI curators]

Allele List at MGI

All alleles(40) : Gene trapped(40)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,425,606 (GRCm39)	S1219G	probably benign	Het
Adgrg5	T	A	8: 95,660,580 (GRCm39)	I73N	probably damaging	Het
Agmat	C	A	4: 141,483,144 (GRCm39)	H193N	probably damaging	Het
Ambn	T	C	5: 88,612,370 (GRCm39)		probably null	Het
Atp8b5	T	A	4: 43,366,644 (GRCm39)	C803S	probably benign	Het
Btnl6	C	T	17: 34,733,081 (GRCm39)	G261R	possibly damaging	Het
Clk3	A	G	9: 57,672,721 (GRCm39)	V27A	probably benign	Het
Clu	A	G	14: 66,213,051 (GRCm39)	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,338,528 (GRCm39)	F43L	probably benign	Het
Elf3	C	T	1: 135,182,778 (GRCm39)	E316K	probably damaging	Het
Epha5	A	T	5: 84,479,349 (GRCm39)	D218E	probably damaging	Het
Ereg	T	C	5: 91,222,666 (GRCm39)		probably null	Het
Ewsr1	A	G	11: 5,030,668 (GRCm39)		probably benign	Het
Fat4	A	G	3: 38,941,394 (GRCm39)	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,580,808 (GRCm39)	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,625,989 (GRCm39)		probably null	Het
Fn3k	C	A	11: 121,340,948 (GRCm39)	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,812,572 (GRCm39)	I2964V	probably benign	Het
Gbx1	C	T	5: 24,709,667 (GRCm39)	V393I	possibly damaging	Het
Gch1	C	T	14: 47,394,906 (GRCm39)	A187T	probably damaging	Het
Ghdc	C	A	11: 100,660,020 (GRCm39)	K242N	probably benign	Het
Ghrhr	A	G	6: 55,365,188 (GRCm39)	H394R	probably benign	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,442,208 (GRCm39)	S236R	probably benign	Het
Kcnj5	A	G	9: 32,229,001 (GRCm39)	Y66H	probably benign	Het
Kif15	T	A	9: 122,813,954 (GRCm39)		probably null	Het
Magi3	C	T	3: 103,958,684 (GRCm39)	C467Y	probably damaging	Het
Map7	G	T	10: 20,142,512 (GRCm39)	V303F	probably damaging	Het
Mapk11	A	G	15: 89,030,488 (GRCm39)	L135P	probably damaging	Het
Mapkapk5	T	A	5: 121,669,785 (GRCm39)		probably null	Het
Myh7b	A	C	2: 155,472,954 (GRCm39)	Q1405P	probably damaging	Het
Nalcn	A	T	14: 123,752,777 (GRCm39)	I328N	probably damaging	Het
Nprl2	C	A	9: 107,420,796 (GRCm39)	R144S	probably benign	Het
Ogfr	G	T	2: 180,237,067 (GRCm39)	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,237,068 (GRCm39)	D551V	probably benign	Het
Or6b13	A	T	7: 139,782,305 (GRCm39)	V126E	probably damaging	Het
Or8c10	A	T	9: 38,279,270 (GRCm39)	T143S	probably benign	Het
Parp14	T	C	16: 35,686,545 (GRCm39)	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,612,920 (GRCm39)	T627S	probably damaging	Het
Pdzrn4	G	A	15: 92,575,502 (GRCm39)	G303S	probably benign	Het
Plcl1	A	T	1: 55,736,543 (GRCm39)	Y628F	probably benign	Het
Ptpn9	T	A	9: 56,940,441 (GRCm39)	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,573,102 (GRCm39)	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,065,095 (GRCm39)	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,108,911 (GRCm39)	R218L	possibly damaging	Het
Scart1	A	T	7: 139,804,068 (GRCm39)	H422L	probably benign	Het
Serpine2	C	A	1: 79,794,592 (GRCm39)	V114L	probably benign	Het
Serpine2	T	C	1: 79,799,206 (GRCm39)	Y16C	probably benign	Het
Sgms1	G	T	19: 32,137,232 (GRCm39)	N111K	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,498,292 (GRCm39)	M1K	probably null	Het
Tcf12	A	T	9: 71,776,320 (GRCm39)	H403Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,512 (GRCm39)	I678T	probably damaging	Het
Thsd7b	T	C	1: 129,849,071 (GRCm39)	S928P	probably benign	Het
Tjp1	A	T	7: 64,952,715 (GRCm39)	F1540I	probably damaging	Het
Tph2	T	A	10: 114,915,669 (GRCm39)	D457V	possibly damaging	Het
Usp9y	T	C	Y: 1,314,676 (GRCm39)	I2112V	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp335	T	C	2: 164,749,650 (GRCm39)	K249R	probably damaging	Het
Zfp54	C	A	17: 21,654,788 (GRCm39)	S427R	probably benign	Het
Zfp607b	A	G	7: 27,401,813 (GRCm39)	T90A	probably benign	Het

Other mutations in Btaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Btaf1	APN	19	36,987,102 (GRCm39)	missense	probably damaging	1.00
IGL00535:Btaf1	APN	19	36,974,935 (GRCm39)	missense	probably damaging	1.00
IGL00574:Btaf1	APN	19	36,947,330 (GRCm39)	missense	probably benign	0.00
IGL00969:Btaf1	APN	19	36,988,652 (GRCm39)	splice site	probably benign
IGL01325:Btaf1	APN	19	36,982,049 (GRCm39)	splice site	probably benign
IGL01399:Btaf1	APN	19	36,977,570 (GRCm39)	nonsense	probably null
IGL02024:Btaf1	APN	19	36,969,826 (GRCm39)	splice site	probably benign
IGL02471:Btaf1	APN	19	36,977,592 (GRCm39)	missense	probably damaging	0.96
IGL02664:Btaf1	APN	19	36,955,828 (GRCm39)	splice site	probably benign
IGL02898:Btaf1	APN	19	36,946,468 (GRCm39)	missense	probably benign
IGL02995:Btaf1	APN	19	36,958,535 (GRCm39)	splice site	probably benign
IGL03023:Btaf1	APN	19	36,987,415 (GRCm39)	missense	possibly damaging	0.85
IGL03188:Btaf1	APN	19	36,926,508 (GRCm39)	missense	possibly damaging	0.91
IGL03353:Btaf1	APN	19	36,969,900 (GRCm39)	missense	probably damaging	1.00
freudenberg	UTSW	19	36,965,573 (GRCm39)	critical splice donor site	probably null
Galanos	UTSW	19	36,926,502 (GRCm39)	missense	probably damaging	1.00
3-1:Btaf1	UTSW	19	36,987,478 (GRCm39)	missense	probably damaging	1.00
R0013:Btaf1	UTSW	19	36,935,773 (GRCm39)	missense	probably benign
R0048:Btaf1	UTSW	19	36,980,924 (GRCm39)	missense	probably benign	0.01
R0117:Btaf1	UTSW	19	36,947,368 (GRCm39)	missense	probably benign	0.06
R0207:Btaf1	UTSW	19	36,987,048 (GRCm39)	nonsense	probably null
R0310:Btaf1	UTSW	19	36,981,934 (GRCm39)	missense	probably damaging	0.96
R0377:Btaf1	UTSW	19	36,966,402 (GRCm39)	missense	probably benign
R0419:Btaf1	UTSW	19	36,922,629 (GRCm39)	missense	probably damaging	0.99
R0440:Btaf1	UTSW	19	36,964,053 (GRCm39)	missense	probably damaging	0.99
R0532:Btaf1	UTSW	19	36,928,586 (GRCm39)	splice site	probably benign
R0612:Btaf1	UTSW	19	36,946,537 (GRCm39)	missense	probably damaging	0.99
R0731:Btaf1	UTSW	19	36,974,895 (GRCm39)	splice site	probably null
R0780:Btaf1	UTSW	19	36,966,322 (GRCm39)	missense	probably damaging	0.99
R0919:Btaf1	UTSW	19	36,968,143 (GRCm39)	missense	probably benign	0.03
R1104:Btaf1	UTSW	19	36,982,002 (GRCm39)	missense	probably damaging	1.00
R1263:Btaf1	UTSW	19	36,933,924 (GRCm39)	missense	probably benign	0.10
R1325:Btaf1	UTSW	19	36,946,562 (GRCm39)	missense	possibly damaging	0.68
R1447:Btaf1	UTSW	19	36,969,854 (GRCm39)	missense	probably benign	0.00
R1554:Btaf1	UTSW	19	36,973,998 (GRCm39)	missense	probably benign	0.02
R1649:Btaf1	UTSW	19	36,959,122 (GRCm39)	missense	probably benign
R1715:Btaf1	UTSW	19	36,946,521 (GRCm39)	missense	probably damaging	0.99
R1733:Btaf1	UTSW	19	36,972,362 (GRCm39)	missense	probably benign
R1764:Btaf1	UTSW	19	36,928,518 (GRCm39)	missense	probably benign	0.12
R1874:Btaf1	UTSW	19	36,957,983 (GRCm39)	missense	probably benign
R1911:Btaf1	UTSW	19	36,964,030 (GRCm39)	missense	probably benign
R1933:Btaf1	UTSW	19	36,950,357 (GRCm39)	missense	probably damaging	1.00
R2080:Btaf1	UTSW	19	36,928,548 (GRCm39)	missense	probably benign	0.09
R2483:Btaf1	UTSW	19	36,958,486 (GRCm39)	missense	probably benign	0.02
R2510:Btaf1	UTSW	19	36,979,845 (GRCm39)	missense	probably benign	0.08
R3623:Btaf1	UTSW	19	36,958,486 (GRCm39)	missense	probably benign	0.02
R3624:Btaf1	UTSW	19	36,958,486 (GRCm39)	missense	probably benign	0.02
R3801:Btaf1	UTSW	19	36,966,373 (GRCm39)	missense	probably benign	0.00
R3801:Btaf1	UTSW	19	36,963,948 (GRCm39)	missense	probably benign
R3802:Btaf1	UTSW	19	36,966,373 (GRCm39)	missense	probably benign	0.00
R3802:Btaf1	UTSW	19	36,963,948 (GRCm39)	missense	probably benign
R3803:Btaf1	UTSW	19	36,966,373 (GRCm39)	missense	probably benign	0.00
R3803:Btaf1	UTSW	19	36,963,948 (GRCm39)	missense	probably benign
R4077:Btaf1	UTSW	19	36,963,879 (GRCm39)	missense	probably benign	0.00
R4079:Btaf1	UTSW	19	36,963,879 (GRCm39)	missense	probably benign	0.00
R4133:Btaf1	UTSW	19	36,939,138 (GRCm39)	missense	probably benign	0.00
R4673:Btaf1	UTSW	19	36,955,772 (GRCm39)	missense	probably benign	0.00
R4731:Btaf1	UTSW	19	36,958,478 (GRCm39)	missense	probably benign	0.03
R4796:Btaf1	UTSW	19	36,933,828 (GRCm39)	missense	possibly damaging	0.95
R4824:Btaf1	UTSW	19	36,958,448 (GRCm39)	missense	possibly damaging	0.84
R4835:Btaf1	UTSW	19	36,979,858 (GRCm39)	missense	probably benign	0.00
R4837:Btaf1	UTSW	19	36,944,185 (GRCm39)	missense	probably benign
R4925:Btaf1	UTSW	19	36,988,733 (GRCm39)	missense	probably benign
R4968:Btaf1	UTSW	19	36,947,351 (GRCm39)	missense	probably null	0.71
R4976:Btaf1	UTSW	19	36,963,979 (GRCm39)	missense	probably benign
R5001:Btaf1	UTSW	19	36,964,052 (GRCm39)	missense	possibly damaging	0.90
R5037:Btaf1	UTSW	19	36,980,931 (GRCm39)	missense	probably damaging	1.00
R5039:Btaf1	UTSW	19	36,968,162 (GRCm39)	missense	probably benign
R5211:Btaf1	UTSW	19	36,973,962 (GRCm39)	missense	probably benign	0.32
R5429:Btaf1	UTSW	19	36,972,257 (GRCm39)	missense	possibly damaging	0.58
R5530:Btaf1	UTSW	19	36,968,175 (GRCm39)	missense	possibly damaging	0.85
R5582:Btaf1	UTSW	19	36,965,573 (GRCm39)	critical splice donor site	probably null
R5654:Btaf1	UTSW	19	36,961,015 (GRCm39)	missense	probably benign	0.35
R5744:Btaf1	UTSW	19	36,981,890 (GRCm39)	missense	probably benign	0.02
R6082:Btaf1	UTSW	19	36,960,942 (GRCm39)	missense	probably damaging	1.00
R6243:Btaf1	UTSW	19	36,958,520 (GRCm39)	missense	probably benign	0.02
R6291:Btaf1	UTSW	19	36,950,408 (GRCm39)	missense	probably benign	0.00
R6502:Btaf1	UTSW	19	36,961,017 (GRCm39)	missense	probably benign
R7034:Btaf1	UTSW	19	36,981,869 (GRCm39)	missense	probably benign
R7036:Btaf1	UTSW	19	36,981,869 (GRCm39)	missense	probably benign
R7085:Btaf1	UTSW	19	36,950,318 (GRCm39)	missense	probably benign
R7097:Btaf1	UTSW	19	36,926,502 (GRCm39)	missense	probably damaging	1.00
R7248:Btaf1	UTSW	19	36,922,714 (GRCm39)	missense	possibly damaging	0.54
R7386:Btaf1	UTSW	19	36,935,782 (GRCm39)	missense	probably benign	0.02
R7402:Btaf1	UTSW	19	36,980,915 (GRCm39)	missense	probably damaging	1.00
R7452:Btaf1	UTSW	19	36,946,527 (GRCm39)	missense	probably damaging	1.00
R7493:Btaf1	UTSW	19	36,987,005 (GRCm39)	missense	probably damaging	1.00
R7513:Btaf1	UTSW	19	36,955,803 (GRCm39)	missense	probably benign	0.30
R7888:Btaf1	UTSW	19	36,943,036 (GRCm39)	missense	probably benign	0.10
R7944:Btaf1	UTSW	19	36,926,565 (GRCm39)	missense	probably benign
R8062:Btaf1	UTSW	19	36,969,865 (GRCm39)	missense	probably benign	0.00
R8559:Btaf1	UTSW	19	36,964,273 (GRCm39)	missense	probably benign	0.00
R8793:Btaf1	UTSW	19	36,958,429 (GRCm39)	missense	probably benign	0.21
R8855:Btaf1	UTSW	19	36,935,901 (GRCm39)	missense	probably benign
R8866:Btaf1	UTSW	19	36,935,901 (GRCm39)	missense	probably benign
R9016:Btaf1	UTSW	19	36,971,705 (GRCm39)	missense	probably benign	0.00
R9028:Btaf1	UTSW	19	36,946,508 (GRCm39)	missense	probably damaging	1.00
R9109:Btaf1	UTSW	19	36,964,114 (GRCm39)	missense	probably benign
R9172:Btaf1	UTSW	19	36,977,630 (GRCm39)	missense	probably damaging	0.98
R9298:Btaf1	UTSW	19	36,964,114 (GRCm39)	missense	probably benign
R9717:Btaf1	UTSW	19	36,922,646 (GRCm39)	missense	probably benign	0.28
W0251:Btaf1	UTSW	19	36,980,904 (GRCm39)	missense	probably damaging	1.00
X0027:Btaf1	UTSW	19	36,926,496 (GRCm39)	nonsense	probably null
Z1088:Btaf1	UTSW	19	36,964,018 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCTTAAATATTAGCCGATTCTGCAGG -3'
(R):5'- TTCTTGCTGCAGCTTTAGAACAAG -3'

Sequencing Primer
(F):5'- GCCGATTCTGCAGGTAACACTATG -3'
(R):5'- ACAAGCACTGTTGGTCACTTTG -3'

Posted On

2016-09-01